De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
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The Quality of Life in Girls with Rett SyndromeWhole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stressCase report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.Identification of novel genetic causes of Rett syndrome-like phenotypes.Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
P2860
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
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De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
@en
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
@nl
type
label
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
@en
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
@nl
prefLabel
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
@en
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
@nl
P2093
P2860
P356
P1476
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
@en
P2093
Chihiro Ohba
Munetsugu Hara
Naomichi Matsumoto
Toyojiro Matsuishi
Yushiro Yamashita
P2860
P304
P356
10.1002/AJMG.A.36775
P407
P577
2015-04-30T00:00:00Z